A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv948045



Internal ID15895315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43798559..43849960hg38UCSC Ensembl
Innerchr21:45218440..45269841hg19UCSC Ensembl
Innerchr21:44042868..44094269hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3851402
hg1951402
hg1851402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587719
Supporting Variants
Samples
Known GenesLOC284837, RRP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv948045
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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